Department of Forensic Biology, West China School of Preclinical and Forensic Medicine, Sichuan University, Chengdu, China.
Hum Immunol. 2011 Jul;72(7):603-6. doi: 10.1016/j.humimm.2011.03.018. Epub 2011 Apr 8.
Increasing evidence has indicated that genetic variants may contribute to immune dysregulation and susceptibility to noninfectious inflammatory diseases. Cytokines, including interleukin 12 (IL-12), play a key role in the regulation of the immune system. The aim of this study was to investigate whether single nucleotide polymorphisms (SNP) in IL-12A and IL-12B were associated with asthma in a Chinese population. Genotype characteristics were determined in 197 asthma patients and 369 controls by the polymerase chain reaction-restriction fragment length polymorphism method and DNA sequencing assay. The genotype and allele frequencies of IL-12A rs568408 demonstrated significant differences between cases and controls (p < 0.001). The AC genotype of rs3212227 was associated with a significantly decreased risk of asthma compared with the AA genotype (p = 0.036). The subjects carrying combined genotypes (rs568408 AG and rs3212227 AC/CC) at both loci had a 2.05-fold increased asthma risk compared with those carrying all other genotypes (p = 0.001). In contrast, individuals carrying combined genotypes of rs568408 GG and rs3212227 AC/CC were associated with a significantly decreased risk of asthma compared with those carrying the combined genotypes of rs568408GG and rs3212227AA (p = 0.009). No significant difference was reported for rs2243115 between cases and controls. These results suggest that the SNPs in IL-12A rs568404 and IL-12B rs3212227 may individually and jointly contribute to the risk of asthma in a Chinese population.
越来越多的证据表明，遗传变异可能导致免疫失调和易患非传染性炎症性疾病。细胞因子，包括白细胞介素 12（IL-12），在免疫系统的调节中发挥着关键作用。本研究旨在探讨中国人群中白细胞介素 12A（IL-12A）和白细胞介素 12B（IL-12B）的单核苷酸多态性（SNP）是否与哮喘有关。通过聚合酶链反应-限制性片段长度多态性方法和 DNA 测序检测，确定了 197 例哮喘患者和 369 例对照者的基因型特征。IL-12A rs568408 的基因型和等位基因频率在病例组和对照组之间存在显著差异（p<0.001）。与 AA 基因型相比，rs3212227 的 AC 基因型与哮喘的发生风险显著降低（p=0.036）。两个位点均携带 rs568408 AG 和 rs3212227 AC/CC 联合基因型的受试者与携带其他所有基因型的受试者相比，哮喘风险增加 2.05 倍（p=0.001）。相反，与携带 rs568408 GG 和 rs3212227 AC/CC 联合基因型的个体相比，携带 rs568408 GG 和 rs3212227 AA 联合基因型的个体哮喘风险显著降低（p=0.009）。rs2243115 在病例组和对照组之间无显著差异。这些结果表明，IL-12A rs568404 和 IL-12B rs3212227 的 SNP 可能单独和共同导致中国人群哮喘的发病风险。
